Organised by Orthopaedic Institute Ltd, RJAH Orthopaedic HospitalAll proceeds will support research into Charcot Marie Tooth Disease, a rare condition affecting nerves in the non-central, outer regions of the body. The first signs usually appear in children up to 10 years, although it can also occur much later.
Charcot Marie Tooth Disease is hereditary and affects the motor and sensory peripheral nerves connecting the brain and spinal cord to the rest of the body. Motor nerves carry messages from the brain and spinal cord to our muscles. Sensory nerves convert specific external stimuli, such as touch and pain, into signals that are sent back to the brain.
CMT causes the motor and sensory nerves to become damaged and die leading to weakness and muscle wasting below the knees and the hands. Severe numbness means patients can be injured without knowing it ie: bashing feet or burning hands.
Symptoms usually appear in the first 10 years of life although may occur much later. This may be observed as a slight walking difficulty or problems picking up the feet, tremor of the hands, joint pain, foot deformities or muscle cramps.
Approx. 80 genes have been found in which mutations cause CMT. They usually affect the production of a particular protein in the peripheral nerves, causing it to be faulty or not produced at all. Although CMT 1A is usually inherited, it has been found in some individuals with healthy parents, representing a new mutation.
Currently, no treatment is available.
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